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Items: 1 to 20 of 635

1.

rs1490199680 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    15:75762437 (GRCh38)
    15:76054778 (GRCh37)
    Canonical SPDI:
    NC_000015.10:75762436:G:C
    Gene:
    MIR4313 (Varview), LOC101929408 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000071/1 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490006390 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      A>- [Show Flanks]
      Chromosome:
      15:75762653 (GRCh38)
      15:76054994 (GRCh37)
      Canonical SPDI:
      NC_000015.10:75762652:A:
      Gene:
      MIR4313 (Varview), LOC101929408 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,splice_acceptor_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1489868516 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GAAGC>- [Show Flanks]
        Chromosome:
        15:75763558 (GRCh38)
        15:76055899 (GRCh37)
        Canonical SPDI:
        NC_000015.10:75763557:GAAGC:
        Gene:
        MIR4313 (Varview), LOC101929408 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1489626135 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          15:75763300 (GRCh38)
          15:76055641 (GRCh37)
          Canonical SPDI:
          NC_000015.10:75763299:T:C
          Gene:
          MIR4313 (Varview), LOC101929408 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000034/9 (TOPMED)
          HGVS:
          5.

          rs1484853061 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            15:75763897 (GRCh38)
            15:76056238 (GRCh37)
            Canonical SPDI:
            NC_000015.10:75763896:G:A,NC_000015.10:75763896:G:T
            Gene:
            MIR4313 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1484802261 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              15:75762957 (GRCh38)
              15:76055298 (GRCh37)
              Canonical SPDI:
              NC_000015.10:75762956:C:A,NC_000015.10:75762956:C:T
              Gene:
              MIR4313 (Varview), LOC101929408 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1484057681 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                15:75762756 (GRCh38)
                15:76055097 (GRCh37)
                Canonical SPDI:
                NC_000015.10:75762755:G:A
                Gene:
                MIR4313 (Varview), LOC101929408 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                8.

                rs1483658981 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  15:75762854 (GRCh38)
                  15:76055195 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:75762853:C:T
                  Gene:
                  MIR4313 (Varview), LOC101929408 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1482423636 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    15:75762380 (GRCh38)
                    15:76054721 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:75762379:GGG:GG
                    Gene:
                    MIR4313 (Varview), LOC101929408 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GG=0./0 (ALFA)
                    -=0.000007/1 (GnomAD)
                    -=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1481385712 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      15:75764030 (GRCh38)
                      15:76056371 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:75764029:C:T
                      Gene:
                      MIR4313 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1481336053 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        15:75763165 (GRCh38)
                        15:76055506 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:75763164:A:T
                        Gene:
                        MIR4313 (Varview), LOC101929408 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1479698099 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          15:75762750 (GRCh38)
                          15:76055091 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:75762749:G:T
                          Gene:
                          MIR4313 (Varview), LOC101929408 (Varview)
                          Functional Consequence:
                          splice_donor_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1478303320 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            15:75764032 (GRCh38)
                            15:76056373 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:75764031:C:G
                            Gene:
                            MIR4313 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1477790656 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              15:75764298 (GRCh38)
                              15:76056639 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:75764297:C:G
                              Gene:
                              MIR4313 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000043/6 (GnomAD)
                              G=0.000045/12 (TOPMED)
                              HGVS:
                              15.

                              rs1475930685 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                15:75763464 (GRCh38)
                                15:76055805 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:75763463:C:T
                                Gene:
                                MIR4313 (Varview), LOC101929408 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1475331552 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  15:75763544 (GRCh38)
                                  15:76055885 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:75763543:G:A,NC_000015.10:75763543:G:C
                                  Gene:
                                  MIR4313 (Varview), LOC101929408 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000011/3 (TOPMED)
                                  C=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1474775324 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    15:75762868 (GRCh38)
                                    15:76055209 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:75762867:C:T
                                    Gene:
                                    MIR4313 (Varview), LOC101929408 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000011/3 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1472839637 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      T>- [Show Flanks]
                                      Chromosome:
                                      15:75762351 (GRCh38)
                                      15:76054692 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:75762350:T:
                                      Gene:
                                      MIR4313 (Varview), LOC101929408 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1471513205 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        15:75762549 (GRCh38)
                                        15:76054890 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:75762548:G:A
                                        Gene:
                                        MIR4313 (Varview), LOC101929408 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1470822955 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          15:75763231 (GRCh38)
                                          15:76055572 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:75763230:A:C
                                          Gene:
                                          MIR4313 (Varview), LOC101929408 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          C=0.000015/4 (TOPMED)
                                          HGVS:

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